Keppen-Lubinsky syndrome is caused by mutations in the inwardly-rectifying K+ channel encoded by KCNJ6
Andrea Masotti,
Paolo Uva,
Laura Davis-Keppen,
Lina Basel-Vanagaite,
Lior Cohen,
Elisa Pisaneschi,
Antonella Celluzzi,
Paolo Bencivenga,
Mingyan Fang,
Mingyu Tian,
Xun Xu,
Marco Cappa,
Bruno Dallapiccola
American Journal of Human Genetics - 2015
Références BibTex
@Article{MUDBCPCBFTXCD15,
author = {Masotti, A. and Uva, P. and Davis-Keppen, L. and Basel-Vanagaite, L. and Cohen, L. and Pisaneschi, E. and Celluzzi, A. and Bencivenga, P. and Fang, M. and Tian, M. and Xu, X. and Cappa, M. and Dallapiccola, B.},
title = {Keppen-Lubinsky syndrome is caused by mutations in the inwardly-rectifying K+ channel encoded by KCNJ6},
journal = {American Journal of Human Genetics},
year = {2015},
keywords = {next generation sequencing, exome sequencing},
doi = {10.1016/j.ajhg.2014.12.011},
url = {https://publications.crs4.it/pubdocs/2015/MUDBCPCBFTXCD15},
}
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